Skeletal dysplasia
Gene: FKBP10
OI and decreasing bone density gp of SD. At least 3 cases reported.; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Brucks syndrome 1 - 259450; Osteogenesis imperfecta, type XI, 610968
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: FKBP10; Initial rating suggestion: GreenCreated: 6 Mar 2019, 11:36 a.m.
Listed as associated with Skeletal Dysplasia by Gene Advisor (June 2016), Steve AbbsCreated: 27 Jul 2016, 9:35 a.m.
Tier 1Created: 17 Jun 2016, 8:04 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bruck syndrome 1 259450; Osteogenesis imperfecta, type XI 610968
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Brucks syndrome 1 - 259450; Osteogenesis imperfecta, type XI, 610968 for gene: FKBP10
Source NHS GMS was added to FKBP10. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
FKBP10 was added to Unexplained skeletal dysplasiapanel. Source: Radboud University Medical Center, Nijmegen FKBP10 was added to Unexplained skeletal dysplasiapanel. Source: Illumina TruGenome Clinical Sequencing Services FKBP10 was added to Unexplained skeletal dysplasiapanel. Source: Emory Genetics Laboratory FKBP10 was added to Unexplained skeletal dysplasiapanel. Source: Expert Review Green Model of inheritance for gene FKBP10 was set to BIALLELIC, autosomal or pseudoautosomal
FKBP10 was added to Unexplained skeletal dysplasiapanel. Sources:
FKBP10 was created by sleigh